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目的:检测宫颈癌患者外周血人半翼基因(hWAPL)的单核苷酸多态性(SNP)及宫颈癌组织中的HPV DNA感染型别,探讨宫颈癌的发病易感性。方法:应用基质辅助激光解吸附电离飞行时间质谱检测技术检测150例宫颈癌患者(病例组)和150健康妇女(对照组)外周血hWAPL基因的12个标签SNP(tagSNP)位点的多态性;采用基因芯片方法对宫颈脱落细胞进行HPV DNA分型检测。结果:与对照组比较,病例组hWAPL基因的SNP位点rs11595882 T(P=0.001,OR=2.481)、rs10887621 C(P=0.040,OR=1.610)、rs11202058 G(P=0.043,OR=1.479)的危险等位基因频率明显高于对照组(P<0.05)。病例组hWAPL基因SNP rs7083506(CC+CT)(P=0.011,OR=3.273)、rs11595882(TT+TC)(P=0.002,OR=2.510)、rs7918136(TT+TA)(P=0.011,OR=3.273)、rs11202058的(GG+GA)(P=0.011,OR=3.273)危险等位基因型的频率显著高于对照组(P<0.05)。HPV16/18阳性的宫颈癌患者的rs11595882和rs11202058位点的危险等位基因频率和等位基因型频率显著高于HPV16/18阳性的正常人群(P值均小于0.01)。结论:hWAPL基因的多态性改变是宫颈癌发生的危险因素,尤其对合并高危型HPV16/18阳性的患者尤为显著。
Objective: To detect the single nucleotide polymorphism (SNP) of hWAPL in peripheral blood of patients with cervical cancer and the type of HPV DNA infection in cervical cancer so as to investigate the susceptibility of cervical cancer. Methods: Matrix-assisted laser desorption / ionization time of flight mass spectrometry (MALDI-TOF-MS / MS) was used to detect the polymorphism of 12 SNP (tagSNP) loci in hWAPL gene in 150 cases of cervical cancer patients (case group) and 150 healthy women (control group) HPV DNA typing was performed on cervical exfoliated cells using gene chip method. Results: Compared with the control group, the SNP loci rs11595882 T, rs10887621 C (P = 0.040, OR = 1.610), rs11202058 G (P = 0.043, OR = 1.479) The risk allele frequency was significantly higher than that of the control group (P <0.05). The case-control group had significantly higher hWAPL SNPs rs7083506 (CC + CT) (rs = 0.011, OR = 3.273), rs11595882 (TT + TC) 3.273). The risk allele frequencies of (GG + GA) rs11202058 (P = 0.011, OR = 3.273) were significantly higher than those of the control group (P <0.05). The risk allele frequency and allele frequency of rs11595882 and rs11202058 in HPV16 / 18-positive cervical cancer patients were significantly higher than those in HPV16 / 18-positive normal subjects (P <0.01). CONCLUSION: Polymorphism of hWAPL gene is a risk factor for cervical cancer, especially for those with high-risk HPV16 / 18 positive.